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When do athletes benefit from cardiac genetic testing?
  1. Christopher Semsarian1,2,3,
  2. Jessica Orchard2,
  3. Belinda Gray2,3,
  4. John Orchard2
  1. 1 Agnes Ginges Centre for Molecular Cardiology, Centenary Institute and The University of Sydney, Sydney, New South Wales, Australia
  2. 2 Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia
  3. 3 Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia
  1. Correspondence to Professor Christopher Semsarian, University of Sydney, Newtown, NSW 2042, Australia; c.semsarian{at}

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Genetic testing has had a major impact in many areas of medicine, including sports cardiology. Here we discuss cardiac genetic testing not as a screening tool but rather as an evidence-based follow-up test in an athlete with an abnormal ECG or medical history to identify those athletes who have a potentially life-threatening cardiac genetic disorder.

Principles of cardiac genetic testing in the general population

Cardiac genetic testing is a valuable investigation for the diagnosis of over 40 cardiovascular diseases including the inherited cardiomyopathies and primary arrhythmogenic disorders. A positive genetic diagnosis can impact on the individual in terms of diagnosis, guiding treatment options and prognosis, as well as in screening family members. Advances in next generation sequencing technologies has resulted in the ability to test for panels of genes, quickly and at relatively low cost, making cardiac genetic testing more commonplace in clinical practice. Perhaps the greatest challenge is not the actual sequencing of cardiac genes but the detailed and comprehensive analysis and interpretation of the genetic data to determine the pathogenicity of the DNA variants identified and which of the findings are clinically relevant to the individual’s phenotype.1 As a result, cardiac genetic testing is best undertaken in a specialised multidisciplinary clinic setting where specific clinical and genetic expertise is available.2 3 In Australia and the UK, a referral to a specified cardiogenetics programme typically comes from a general cardiologist. These clinics are found in a number of …

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  • Twitter @CSHeartResearch, @jessicajorchard, @DrJohnOrchard

  • Contributors All authors contributed to the conception of the idea, drafting the manuscript and final approval.

  • Funding CS is the recipient of a National Health and Medical Research Council (NHMRC) Practitioner Fellowship (#1154992). JeO is supported by an Australian Government Research Training Program Scholarship. BG is the recipient of a NHMRC Early Career Fellowship (#1122330).

  • Disclaimer No other disclosures from other authors.

  • Competing interests JoO is a consultant of Cricket Australia.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.